G14V (p.Gly14Val) variant of CACNA1B (Q00975)
G14V (p.Gly14Val) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
G14V (p.Gly14Val) variant details
- p.Gly14Val
- Ensembl rs1956856387
- Missense
- Variant Prioritization Score for Impact Estimate 0.706
- REVEL 0.67
- MetaLR 0.89
- MetaSVM 0.93
- CADD 24.10
- PolyPhen-2 0.66
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available